Emery and Rimoin's principles and practice of medical genetics and genomics.: Clinical principles and applications /
"The Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medica...
Saved in:
| Other Authors: | , , |
|---|---|
| Format: | Electronic eBook |
| Language: | English |
| Published: |
London, U.K. :
Academic Press is an imprint of Elsevier,
[2019]
|
| Edition: | Seventh edition. |
| Subjects: | |
| Online Access: | DE-862 DE-863 DE-862 DE-863 |
| Summary: | "The Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application"--Publisher's description |
| Item Description: | Companion volume to Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019]. |
| Physical Description: | 1 online resource (xiii, 397 pages) : illustrations (some color) |
| Bibliography: | Includes bibliographical references and index. |
| ISBN: | 9780128126844 0128126841 |
| Access: | Legal Deposit; |
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| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a A clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective. | |
| 520 | |a "The Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application"--Publisher's description | ||
| 588 | 0 | |a Online resource; title from electronic title page (ClinicalKey, viewed January 2, 2019). | |
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| contents | A clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective. |
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| discipline | Medizin |
| edition | Seventh edition. |
| format | Electronic eBook |
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| genre | Internet Resources. |
| genre_facet | Internet Resources. |
| id | ZDB-4-EBA-on1076269080 |
| illustrated | Illustrated |
| indexdate | 2025-04-11T08:46:38Z |
| institution | BVB |
| isbn | 9780128126844 0128126841 |
| language | English |
| oclc_num | 1076269080 |
| open_access_boolean | |
| owner | MAIN DE-862 DE-BY-FWS DE-863 DE-BY-FWS |
| owner_facet | MAIN DE-862 DE-BY-FWS DE-863 DE-BY-FWS |
| physical | 1 online resource (xiii, 397 pages) : illustrations (some color) |
| psigel | ZDB-4-EBA FWS_PDA_EBA ZDB-4-EBA |
| publishDate | 2019 |
| publishDateSearch | 2019 |
| publishDateSort | 2019 |
| publisher | Academic Press is an imprint of Elsevier, |
| record_format | marc |
| spelling | Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Principles and practice of medical genetics and genomics Clinical principles and applications Seventh edition. London, U.K. : Academic Press is an imprint of Elsevier, [2019] ©2019 1 online resource (xiii, 397 pages) : illustrations (some color) text txt rdacontent computer c rdamedia online resource cr rdacarrier Companion volume to Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019]. Includes bibliographical references and index. A clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective. "The Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application"--Publisher's description Online resource; title from electronic title page (ClinicalKey, viewed January 2, 2019). Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK). WlAbNL Medical genetics. http://id.loc.gov/authorities/subjects/sh85082937 Genomics. http://id.loc.gov/authorities/subjects/sh2002000809 Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Genetics, Medical Genetic Diseases, Inborn Genomics https://id.nlm.nih.gov/mesh/D023281 Génétique médicale. Génomique. Maladies génétiques. HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic disorders fast Genomics fast Medical genetics fast Internet Resources. Pyeritz, Reed E., editor. Korf, Bruce R., editor. Grody, Wayne W., editor. Companion to: Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations. Seventh edition. Print version: Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications. London : Academic Press is an imprint of Elsevier, [2019] 9780128125366 (OCoLC)1079211749 |
| spellingShingle | Emery and Rimoin's principles and practice of medical genetics and genomics. A clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective. Medical genetics. http://id.loc.gov/authorities/subjects/sh85082937 Genomics. http://id.loc.gov/authorities/subjects/sh2002000809 Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Genetics, Medical Genetic Diseases, Inborn Genomics https://id.nlm.nih.gov/mesh/D023281 Génétique médicale. Génomique. Maladies génétiques. HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic disorders fast Genomics fast Medical genetics fast |
| subject_GND | http://id.loc.gov/authorities/subjects/sh85082937 http://id.loc.gov/authorities/subjects/sh2002000809 http://id.loc.gov/authorities/subjects/sh87001834 https://id.nlm.nih.gov/mesh/D023281 |
| title | Emery and Rimoin's principles and practice of medical genetics and genomics. |
| title_alt | Principles and practice of medical genetics and genomics Clinical principles and applications Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations. Seventh edition. |
| title_auth | Emery and Rimoin's principles and practice of medical genetics and genomics. |
| title_exact_search | Emery and Rimoin's principles and practice of medical genetics and genomics. |
| title_full | Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. |
| title_fullStr | Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. |
| title_full_unstemmed | Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. |
| title_short | Emery and Rimoin's principles and practice of medical genetics and genomics. |
| title_sort | emery and rimoin s principles and practice of medical genetics and genomics clinical principles and applications |
| topic | Medical genetics. http://id.loc.gov/authorities/subjects/sh85082937 Genomics. http://id.loc.gov/authorities/subjects/sh2002000809 Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Genetics, Medical Genetic Diseases, Inborn Genomics https://id.nlm.nih.gov/mesh/D023281 Génétique médicale. Génomique. Maladies génétiques. HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic disorders fast Genomics fast Medical genetics fast |
| topic_facet | Medical genetics. Genomics. Genetic disorders. Genetics, Medical Genetic Diseases, Inborn Genomics Génétique médicale. Génomique. Maladies génétiques. HEALTH & FITNESS Diseases General. MEDICAL Clinical Medicine. MEDICAL Diseases. MEDICAL Evidence-Based Medicine. MEDICAL Internal Medicine. Genetic disorders Medical genetics Internet Resources. |
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